Huiyul Park, Eileen L Yoon, Goh Eun Chung, Eun Kyung Choe, Jung Ho Bae, Seung Ho Choi, Mimi Kim, Woochang Hwang, Hye-Lin Kim, Sun Young Yang, Dae Won Jun
{"title":"韩国健康体检者队列中瘦型非酒精性脂肪肝的遗传和代谢特征","authors":"Huiyul Park, Eileen L Yoon, Goh Eun Chung, Eun Kyung Choe, Jung Ho Bae, Seung Ho Choi, Mimi Kim, Woochang Hwang, Hye-Lin Kim, Sun Young Yang, Dae Won Jun","doi":"10.5009/gnl230044","DOIUrl":null,"url":null,"abstract":"<p><strong>Background/aims: </strong>The pathophysiology of lean nonalcoholic fatty liver disease (NAFLD) is unclear but has been shown to be associated with more diverse pathogenic mechanisms than that of obese NAFLD. We investigated the characteristics of genetic or metabolic lean NAFLD in a health checkup cohort.</p><p><strong>Methods: </strong>This retrospective cross-sectional study analyzed single nucleotide polymorphism data for 6,939 health examinees. Lean individuals were categorized according to a body mass index cutoff of 23 kg/m<sup>2</sup>. Single nucleotide polymorphisms were analyzed using genotyping arrays.</p><p><strong>Results: </strong>The prevalence of lean NAFLD was 21.6% among all participants with NAFLD, and the proportion of lean NAFLD was 18.5% among lean participants. The prevalence of metabolic syndrome and diabetes among lean patients with NAFLD was 12.4% and 10.4%, respectively. Lean NAFLD appeared to be metabolic-associated in approximately 20.1% of patients. The homozygous minor allele (GG) of <i>PNPLA3</i> (rs738409) and heterozygous minor alleles (CT, TT) of <i>TM6SF2</i> (rs58542926) were associated with lean NAFLD. However, the prevalence of fatty liver was not associated with the genetic variants <i>MBOAT7</i> (rs641738), <i>HSD17B13</i> (rs72613567), <i>MARC1</i> (rs2642438), or <i>AGXT2</i> (rs2291702) in lean individuals. Lean NAFLD appeared to be associated with <i>PNPLA3</i> or <i>TM6SF2</i> genetic variation in approximately 32.1% of cases. Multivariate risk factor analysis showed that metabolic risk factors, genetic risk variants, and waist circumference were independent risk factors for lean NAFLD.</p><p><strong>Conclusions: </strong>In a considerable number of patients, lean NAFLD did not appear to be associated with known genetic or metabolic risk factors. Further studies are required to investigate additional risk factors and gain a more comprehensive understanding of lean NAFLD.</p>","PeriodicalId":12885,"journal":{"name":"Gut and Liver","volume":" ","pages":"316-327"},"PeriodicalIF":3.4000,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938142/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic and Metabolic Characteristics of Lean Nonalcoholic Fatty Liver Disease in a Korean Health Examinee Cohort.\",\"authors\":\"Huiyul Park, Eileen L Yoon, Goh Eun Chung, Eun Kyung Choe, Jung Ho Bae, Seung Ho Choi, Mimi Kim, Woochang Hwang, Hye-Lin Kim, Sun Young Yang, Dae Won Jun\",\"doi\":\"10.5009/gnl230044\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background/aims: </strong>The pathophysiology of lean nonalcoholic fatty liver disease (NAFLD) is unclear but has been shown to be associated with more diverse pathogenic mechanisms than that of obese NAFLD. We investigated the characteristics of genetic or metabolic lean NAFLD in a health checkup cohort.</p><p><strong>Methods: </strong>This retrospective cross-sectional study analyzed single nucleotide polymorphism data for 6,939 health examinees. Lean individuals were categorized according to a body mass index cutoff of 23 kg/m<sup>2</sup>. Single nucleotide polymorphisms were analyzed using genotyping arrays.</p><p><strong>Results: </strong>The prevalence of lean NAFLD was 21.6% among all participants with NAFLD, and the proportion of lean NAFLD was 18.5% among lean participants. The prevalence of metabolic syndrome and diabetes among lean patients with NAFLD was 12.4% and 10.4%, respectively. Lean NAFLD appeared to be metabolic-associated in approximately 20.1% of patients. The homozygous minor allele (GG) of <i>PNPLA3</i> (rs738409) and heterozygous minor alleles (CT, TT) of <i>TM6SF2</i> (rs58542926) were associated with lean NAFLD. However, the prevalence of fatty liver was not associated with the genetic variants <i>MBOAT7</i> (rs641738), <i>HSD17B13</i> (rs72613567), <i>MARC1</i> (rs2642438), or <i>AGXT2</i> (rs2291702) in lean individuals. Lean NAFLD appeared to be associated with <i>PNPLA3</i> or <i>TM6SF2</i> genetic variation in approximately 32.1% of cases. Multivariate risk factor analysis showed that metabolic risk factors, genetic risk variants, and waist circumference were independent risk factors for lean NAFLD.</p><p><strong>Conclusions: </strong>In a considerable number of patients, lean NAFLD did not appear to be associated with known genetic or metabolic risk factors. Further studies are required to investigate additional risk factors and gain a more comprehensive understanding of lean NAFLD.</p>\",\"PeriodicalId\":12885,\"journal\":{\"name\":\"Gut and Liver\",\"volume\":\" \",\"pages\":\"316-327\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2024-03-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938142/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gut and Liver\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5009/gnl230044\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/8/10 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gut and Liver","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5009/gnl230044","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/10 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Genetic and Metabolic Characteristics of Lean Nonalcoholic Fatty Liver Disease in a Korean Health Examinee Cohort.
Background/aims: The pathophysiology of lean nonalcoholic fatty liver disease (NAFLD) is unclear but has been shown to be associated with more diverse pathogenic mechanisms than that of obese NAFLD. We investigated the characteristics of genetic or metabolic lean NAFLD in a health checkup cohort.
Methods: This retrospective cross-sectional study analyzed single nucleotide polymorphism data for 6,939 health examinees. Lean individuals were categorized according to a body mass index cutoff of 23 kg/m2. Single nucleotide polymorphisms were analyzed using genotyping arrays.
Results: The prevalence of lean NAFLD was 21.6% among all participants with NAFLD, and the proportion of lean NAFLD was 18.5% among lean participants. The prevalence of metabolic syndrome and diabetes among lean patients with NAFLD was 12.4% and 10.4%, respectively. Lean NAFLD appeared to be metabolic-associated in approximately 20.1% of patients. The homozygous minor allele (GG) of PNPLA3 (rs738409) and heterozygous minor alleles (CT, TT) of TM6SF2 (rs58542926) were associated with lean NAFLD. However, the prevalence of fatty liver was not associated with the genetic variants MBOAT7 (rs641738), HSD17B13 (rs72613567), MARC1 (rs2642438), or AGXT2 (rs2291702) in lean individuals. Lean NAFLD appeared to be associated with PNPLA3 or TM6SF2 genetic variation in approximately 32.1% of cases. Multivariate risk factor analysis showed that metabolic risk factors, genetic risk variants, and waist circumference were independent risk factors for lean NAFLD.
Conclusions: In a considerable number of patients, lean NAFLD did not appear to be associated with known genetic or metabolic risk factors. Further studies are required to investigate additional risk factors and gain a more comprehensive understanding of lean NAFLD.
期刊介绍：
Gut and Liver is an international journal of gastroenterology, focusing on the gastrointestinal tract, liver, biliary tree, pancreas, motility, and neurogastroenterology. Gut and Liver delivers up-to-date, authoritative papers on both clinical and research-based topics in gastroenterology. The Journal publishes original articles, case reports, brief communications, letters to the editor and invited review articles in the field of gastroenterology. The Journal is operated by internationally renowned editorial boards and designed to provide a global opportunity to promote academic developments in the field of gastroenterology and hepatology.
Gut and Liver is jointly owned and operated by 8 affiliated societies in the field of gastroenterology, namely: the Korean Society of Gastroenterology, the Korean Society of Gastrointestinal Endoscopy, the Korean Society of Neurogastroenterology and Motility, the Korean College of Helicobacter and Upper Gastrointestinal Research, the Korean Association for the Study of Intestinal Diseases, the Korean Association for the Study of the Liver, the Korean Pancreatobiliary Association, and the Korean Society of Gastrointestinal Cancer.
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